Canonical Allele Identifier: CA2567032

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121770415A>G , CM000665.2:g.121770415A>G	GRCh38
NC_000003.11:g.121489262A>G , CM000665.1:g.121489262A>G	GRCh37
NC_000003.10:g.122971952A>G	NCBI36
NG_015887.1:g.69665T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001023570.4:c.1727T>C MANE Select	NP_001018864.2:p.Ile576Thr
ENST00000310864.11:c.1727T>C MANE Select	ENSP00000311505.6:p.Ile576Thr
NM_001023570.2:c.1727T>C	NP_001018864.2:p.Ile576Thr
NM_001023570.3:c.1727T>C	NP_001018864.2:p.Ile576Thr
NM_001023571.2:c.1328T>C	NP_001018865.2:p.Ile443Thr
NM_001023571.3:c.1328T>C	NP_001018865.2:p.Ile443Thr
NM_001023571.4:c.1328T>C	NP_001018865.2:p.Ile443Thr
NM_001319107.1:c.1727T>C	NP_001306036.1:p.Ile576Thr
NM_001319107.2:c.1727T>C	NP_001306036.1:p.Ile576Thr
NR_134968.1:n.1831T>C
NR_134968.2:n.1812T>C
ENST00000310864.10:c.1727T>C	ENSP00000311505.6:p.Ile576Thr
ENST00000349820.10:c.1328T>C	ENSP00000323756.7:p.Ile443Thr
ENST00000393650.7:c.*705T>C	ENSP00000377261.3:n.*705T>C
XM_005247911.2:c.*145T>C	XP_005247968.1:n.*145T>C
XM_005247911.4:c.*145T>C	XP_005247968.1:n.*145T>C
XM_005247912.1:c.1175T>C	XP_005247969.1:p.Ile392Thr
XM_005247912.3:c.1175T>C	XP_005247969.1:p.Ile392Thr
XM_011513335.1:c.1175T>C	XP_011511637.1:p.Ile392Thr
XM_011513335.3:c.1175T>C	XP_011511637.1:p.Ile392Thr
XM_017007537.2:c.1175T>C	XP_016863026.1:p.Ile392Thr
XM_017007539.2:c.*145T>C	XP_016863028.1:n.*145T>C
XM_024453833.1:c.1175T>C	XP_024309601.1:p.Ile392Thr
XM_024453834.1:c.1175T>C	XP_024309602.1:p.Ile392Thr
XR_001740376.2:n.1706T>C
XR_001740377.2:n.1549T>C
XR_001740378.2:n.1745T>C
XR_001740379.2:n.1596T>C
XR_001740380.2:n.1588T>C
XR_001740381.2:n.1439T>C
XR_924221.1:n.1744T>C